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Nat Rev Genet. 2005 Oct;6(10):729-42.

Repeat instability: mechanisms of dynamic mutations.

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Program of Genetics and Genomic Biology, The Hospital for Sick Children, 15-312, TMDT, 101 College Street, East Tower, Toronto, Ontario M5G 1L7, Canada.


Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat expansion mutations are dynamic and ongoing within tissues and across generations. The patterns of inherited and tissue-specific instability are determined by both gene-specific cis-elements and trans-acting DNA metabolic proteins. Repeat instability probably involves the formation of unusual DNA structures during DNA replication, repair and recombination. Experimental advances towards explaining the mechanisms of repeat instability have broadened our understanding of this mutational process. They have revealed surprising ways in which metabolic pathways can drive or protect from repeat instability.

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